Glycogen storage disease type 1D: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal glucose transporter) which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar for energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
Glycogen storage disease type 2B or Danon disease: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (glucosidase or acid maltase) needed to break it down. Type IIB usually starts during childhood.
Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.
GSDIII is divided into types IIIa, IIIb, IIIc, and IIId, which are distinguished by their pattern of signs and symptoms. GSD types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver. It is very difficult to distinguish between the types of GSDIII that affect the same tissues. GSD types IIIa and IIIb are the most common forms of this condition.
A glycogen storage disease (GSD) is the result of an enzyme defect. These enzymes normally catalyze reactions that ultimately convert glycogen compounds to glucose. Enzyme deficiency results in glycogen accumulation in tissues. In many cases, the defect has systemic consequences, but in some cases, the defect is limited to specific tissues. Most patients experience muscle symptoms such as weakness and cramps, although certain GSDs manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly.
Consisting of at least eight distinct errors of metabolism — all inherited — glycogen storage disease alters the synthesis or degradation of glycogen, the form in which glucose is stored in the body. Normally, muscle and liver cells store glycogen. Muscle glycogen is used in muscle contraction; liver glycogen can be converted into free glucose, which can then diffuse out of the liver cells to increase blood glucose levels. Glycogen storage disease manifests as a dysfunction of the liver, heart, or musculoskeletal system. Symptoms vary from mild and easily controlled hypoglycemia to severe organ involvement that may lead to cardiac and respiratory failure.
Glycogen storage disease type 6: A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase b kinase leads to hypoglycemia and accumulation of glycogen in the liver.
Glycogen storage disease type VI, due to phosphorylation (medical condition): A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase b kinase leads to hypoglycemia and accumulation of glycogen in the liver.
Glycogen storage disease type 7: An inherited metabolic disorder where there is a deficiency of phosphofructokinase-1 in the muscle and a partial deficiency in red blood cells which prevents glucose being converted to energy during exercise.
Glycogenosis type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. The severity of the condition is variable and onset may occur during infancy, childhood or adulthood.
Glycogenosis type III is resulted from deficiency of the debranching enzyme amylo-1,6-glucosidase. It involves muscle, liver, heart, and rarely peripheral nerve. There is hypoglycemia and sometimes chronic hyperuricemia. The clinical manifestations are mild and therefore glycogenosis type III is compatible with long term survival and close to normal daily life.
Glycogenosis type IV (medical condition): An rare inborn error of metabolism involving glycogen storage and characterized by cirrhosis and sometimes liver failure. Lack of the amyl-transglucosidase enzyme and abnormal glycogen causes the condition.
Summary: McArdle’s disease is resulted from the deficiency of the muscle isoform of glycogen phosphorylase (myophosphorylase). This is the first myopathy in which a single enzyme defect was demonstrated. It is also entirely restricted to muscle. Other than the fatal infantile form, McArdle’s disease is compatible with long-term survival. It is classically associated with life long exercise intolerance. The initial symptoms are mild and patient may be carrying a label of “lazyness”. Later symptoms include muscle cramps after exercise, myoglobinuria, and, in later course of the disease, muscle wasting. Severe sternous exercise may cause myoglobinuria that is severe enough to cause acute renal failure. In the past, many cases are not diagnosed until adulthood. Histologically, there is an increased storage of glycogen and absence of phosphorylase activity. The presence of abundance of necrotic and regenerating fibers could qualify this disease as a muscular dystrophy. The biochemical structure of the stored glycogen is normal.
A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase b kinase leads to hypoglycemia and accumulation of glycogen in the liver.
An inherited metabolic disorder where there is a deficiency of phosphofructokinase-1 in the muscle and a partial deficiency in red blood cells which prevents glucose being converted to energy during exercise.
Glycogenosis type 8: A mild glycogen storage disease which affects males only and involves a deficiency of the enzyme phosphorylase b-kinase.
Glycogenosis, type 0: A rare metabolic disorder caused by a genetic deficiency of a liver enzyme called glycogen synthase.
Glycosylphosphatidylinositol deficiency: A genetic disorder where the deficiency of a glycolipid called glycosylphosphatidylinositol causes seizures blood problems.
GM2 gangliosidosis, 0 variant (medical condition): An inherited biochemical disorder involving a deficiency of the enzyme called hexosaminidase A&B which results in the harmful accumulation of chemicals in the central nervous system and other body tissues.
GM2-gangliosidosis, B, B1, AB variant (medical condition): A condition which is causes GM2 gangliosidosis
Gms syndrome: A rare syndrome characterized by mental retardation, short stature and an eye abnormality.
Gnathostoma Infection: Infection with a type of round worm (Gnathostoma spinigerum and Gnathostoma hispidum). Infection typically occurs through eating undercooked fish or poultry containing the roundworm larvae or by drinking contaminated water. The symptoms are determined by which tissues the worms migrate through. The worms tend to migrate mainly through the skin.
Goldberg-Shprintzen megacolon syndrome: A rare malformations syndrome characterized by abnormalities such as small head, eye problems, poor muscle tone, hearing problems and Hirschsprung megacolon where defective intestinal muscles are unable to move stool efficiently through the intestines.
Goldblatt-Wallis syndrome: A very rare syndrome characterized by mental retardation and an abnormal.
Gonadal dysgenesis XY type associated anomalies: A very rare syndrome characterized mainly by. More detailed information about the symptoms, causes, and treatments of Gonadal dysgenesis XY type associated anomalies is available below.
Gonadal dysgenesis, XX type: A rare genetic condition involving non-functional ovaries causing a failure of puberty due to the lack of production of sex hormones by the ovaries.
Gonadal dysgenesis, XY female type (medical condition): A rare disorder where a female has all the normal external femal characteristics but has non-functioning gonads. This means that none sex hormones needed for puberty are produced.
Goniodysgenesis mental retardation short stature (medical condition): A rare syndrome characterized by mental retardation, short stature and an eye abnormality. .Gms syndrome: A rare syndrome characterized by mental retardation, short stature and an eye abnormality.
Gonococcal conjunctivitis: An eye disease that is sexually transmitted. It is caused by a bacterium called Neisseria gonorrhoeae.
Gonzales del angel syndrome (medical condition): A very rare syndrome characterized mainly by abnormal calcification of the skull.
Good syndrome (medical condition): A rare condition characterized by low immunity (due to reduced number of B cells) and thymoma.